The critically ill patient with ataxia–telangiectasia

Lockman, Justin L.; Iskander, Andrew; Bembea, Melania M.; Crawford, Thomas O.; Lederman, Howard M.; McGrath‐Morrow, Sharon A.; Easley, R. Blaine

doi:10.1097/pcc.0b013e318219281c

Cited by 10 publications

(15 citation statements)

References 23 publications

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“…112,113 Evidence-and expert-based recommendations Lung function tests should be performed routinely every year and preoperatively in all patients with classic ataxiatelangiectasia. 112,113 Evidence-and expert-based recommendations Lung function tests should be performed routinely every year and preoperatively in all patients with classic ataxiatelangiectasia.…”

Section: Mechanical Ventilation At the Intensive Care Unitmentioning

confidence: 99%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

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Section: Mechanical Ventilation At the Intensive Care Unitmentioning

confidence: 99%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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“…Sinopulmonary infections are common in people with A-T [28, 33, 34]. All children with A-T should have their immune systems evaluated to detect those with severe problems that require treatment to minimize the number or severity of infections.…”

Section: Introductionmentioning

confidence: 99%

Ataxia telangiectasia: a review

Rothblum-Oviatt

Wright²,

Lefton‐Greif

et al. 2016

Orphanet J Rare Dis

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431

423

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Definition of the diseaseAtaxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome.EpidemiologyThe world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births.Clinical descriptionA-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations.EtiologyA-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.DiagnosisThe diagnosis of A-T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities (e.g. IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels). Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the finding of an absence or deficiency of the ATM protein or its kinase activity in cultured cell lines, and/or identification of the pathological mutations in the ATM gene.Differential diagnosisThere are several other neurologic and rare disorders that physicians must consider when diagnosing A-T and that can be confused with A-T. Differentiation of these various disorders is often possible with clinical features and selected laboratory tests, including gene sequencing.Antenatal diagnosisAntenatal diagnosis can be performed if the pathological ATM mutations in that family have been identified in an affected child. In the absence of identifying mutations, antenatal diagnosis can be made by haplotype analysis if an unambiguous diagnosis of the affected child has been made through clinical and laboratory findings and/or ATM protein analysis.Genetic counselingGenetic counseling can help family members of a patient with A-T understand when genetic testing for A-T is feasible, and how the test results should be interpreted.Management and prognosisTreatment of the neurologic problems associated wit...

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“…Of note, the patients in the present series were managed utilizing these pulmonary optimization techniques, which included evaluation by a pulmonologist, pulmonary function testing, treatment, and follow‐up. In a separate series of critically ill patients with A‐T, we observed stability of the oxygen saturation and peak inflating pressure, and a similar ease of mechanical ventilation to the group of patients with A‐T undergoing operative procedures (4).…”

Section: Discussionmentioning

confidence: 56%

“…A comprehensive Medline search for anesthetic or perioperative complications of A‐T (performed in July 2011) yielded two results: one study of the diagnoses and management of critically ill patients with A‐T (4), and one review article implying increased anesthetic risk for persons with A‐T (5). A letter to the editor suggested increased risk of pulmonary complications with invasive mechanical ventilation in these patients (6).…”

Section: Introductionmentioning

confidence: 99%

Anesthetic and perioperative risk in the patient with Ataxia‐Telangiectasia

Lockman

Iskander

Bembea

et al. 2011

Pediatric Anesthesia

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Although limited by its retrospective nature, this is the first series describing perioperative risk for patients with A-T. Our results indicate that general anesthesia, airway manipulation, and perioperative mechanical ventilation may be tolerated with only minor postoperative anesthetic concerns. Perioperative providers should be aware of the complex multisystem medical concerns that may arise in these patients.

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The critically ill patient with ataxia–telangiectasia

Cited by 10 publications

References 23 publications

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Ataxia telangiectasia: a review

Anesthetic and perioperative risk in the patient with Ataxia‐Telangiectasia

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